Incidental Mutation 'R5656:Map6'
ID |
442321 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Map6
|
Ensembl Gene |
ENSMUSG00000055407 |
Gene Name |
microtubule-associated protein 6 |
Synonyms |
Mtap6, 2810411E12Rik, F-STOP, STOP |
MMRRC Submission |
043302-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5656 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
98916654-98986344 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98985505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 470
(K470E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146954
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068973]
[ENSMUST00000107100]
[ENSMUST00000122101]
[ENSMUST00000207883]
[ENSMUST00000208605]
[ENSMUST00000208924]
|
AlphaFold |
Q7TSJ2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068973
AA Change: K673E
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000064787 Gene: ENSMUSG00000055407 AA Change: K673E
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
57 |
N/A |
INTRINSIC |
low complexity region
|
93 |
117 |
N/A |
INTRINSIC |
internal_repeat_1
|
191 |
306 |
6.21e-27 |
PROSPERO |
internal_repeat_1
|
302 |
398 |
6.21e-27 |
PROSPERO |
low complexity region
|
501 |
525 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107100
|
SMART Domains |
Protein: ENSMUSP00000102717 Gene: ENSMUSG00000055407
Domain | Start | End | E-Value | Type |
low complexity region
|
12 |
26 |
N/A |
INTRINSIC |
internal_repeat_1
|
28 |
103 |
5.9e-29 |
PROSPERO |
internal_repeat_1
|
120 |
195 |
5.9e-29 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122101
|
SMART Domains |
Protein: ENSMUSP00000113183 Gene: ENSMUSG00000055407
Domain | Start | End | E-Value | Type |
Pfam:STOP
|
1 |
184 |
1.2e-18 |
PFAM |
internal_repeat_1
|
191 |
306 |
1.99e-35 |
PROSPERO |
internal_repeat_1
|
302 |
398 |
1.99e-35 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207883
AA Change: K673E
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208605
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208924
AA Change: K470E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted null mutation are devoid of cold-stable microtubules, and exhibit impaired synaptic plasticity, associated with severe behavioral abnormalities that are specifically ameliorated by long-term administration of neuroleptics. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
Adrb3 |
T |
C |
8: 27,717,405 (GRCm39) |
D348G |
probably damaging |
Het |
Atg2b |
A |
G |
12: 105,587,587 (GRCm39) |
V1959A |
probably benign |
Het |
Bicral |
G |
A |
17: 47,119,295 (GRCm39) |
T742M |
probably damaging |
Het |
Bub1b |
T |
A |
2: 118,435,912 (GRCm39) |
I60N |
probably damaging |
Het |
Ccdc162 |
A |
G |
10: 41,445,930 (GRCm39) |
V414A |
probably benign |
Het |
Cd22 |
T |
G |
7: 30,569,198 (GRCm39) |
Y612S |
probably damaging |
Het |
Cd68 |
T |
A |
11: 69,555,247 (GRCm39) |
I320F |
probably damaging |
Het |
Clca3a2 |
A |
T |
3: 144,503,393 (GRCm39) |
N852K |
probably benign |
Het |
Cpa6 |
T |
A |
1: 10,399,739 (GRCm39) |
H363L |
probably benign |
Het |
Ddx18 |
A |
T |
1: 121,489,087 (GRCm39) |
L320Q |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,421,210 (GRCm39) |
D3849G |
probably benign |
Het |
Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
Efs |
T |
C |
14: 55,154,584 (GRCm39) |
T552A |
probably damaging |
Het |
Fbp1 |
C |
A |
13: 63,023,010 (GRCm39) |
V96L |
probably damaging |
Het |
Gtf3c1 |
T |
A |
7: 125,261,826 (GRCm39) |
N1139I |
probably benign |
Het |
Gucy1b2 |
T |
C |
14: 62,660,430 (GRCm39) |
Y152C |
probably damaging |
Het |
Gxylt1 |
A |
T |
15: 93,143,542 (GRCm39) |
L362Q |
probably damaging |
Het |
Iqcd |
A |
G |
5: 120,743,191 (GRCm39) |
|
probably null |
Het |
Klhl41 |
T |
A |
2: 69,513,876 (GRCm39) |
I585N |
possibly damaging |
Het |
Mast3 |
T |
C |
8: 71,238,865 (GRCm39) |
T496A |
probably damaging |
Het |
Mbd6 |
A |
T |
10: 127,121,155 (GRCm39) |
|
probably benign |
Het |
Melk |
A |
G |
4: 44,312,237 (GRCm39) |
K183R |
possibly damaging |
Het |
Mta1 |
T |
C |
12: 113,086,759 (GRCm39) |
V152A |
probably damaging |
Het |
Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
Nav3 |
A |
C |
10: 109,600,494 (GRCm39) |
S1378A |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
Nlrp4f |
G |
A |
13: 65,338,685 (GRCm39) |
R651* |
probably null |
Het |
Or1e1f |
T |
A |
11: 73,855,536 (GRCm39) |
M34K |
probably damaging |
Het |
Or5b121 |
A |
G |
19: 13,507,744 (GRCm39) |
T280A |
probably benign |
Het |
Or5p72 |
A |
G |
7: 108,021,825 (GRCm39) |
I16V |
probably benign |
Het |
P2rx7 |
A |
T |
5: 122,811,780 (GRCm39) |
R364W |
probably damaging |
Het |
Phactr2 |
T |
C |
10: 13,264,447 (GRCm39) |
D2G |
probably benign |
Het |
Phc3 |
G |
T |
3: 31,020,015 (GRCm39) |
S28R |
probably damaging |
Het |
Ppfia1 |
A |
T |
7: 144,073,711 (GRCm39) |
|
probably null |
Het |
Prdm10 |
C |
T |
9: 31,264,713 (GRCm39) |
T667M |
probably benign |
Het |
Pwwp2b |
T |
A |
7: 138,835,887 (GRCm39) |
S443T |
possibly damaging |
Het |
Pzp |
T |
C |
6: 128,467,035 (GRCm39) |
T1113A |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,526,962 (GRCm39) |
E551G |
possibly damaging |
Het |
Sec23ip |
A |
G |
7: 128,378,508 (GRCm39) |
Y774C |
probably damaging |
Het |
Setdb2 |
T |
C |
14: 59,656,567 (GRCm39) |
D266G |
probably damaging |
Het |
Shank1 |
T |
C |
7: 44,002,310 (GRCm39) |
V1343A |
probably benign |
Het |
Slf2 |
T |
A |
19: 44,961,674 (GRCm39) |
D1064E |
probably benign |
Het |
Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,753,887 (GRCm39) |
|
probably benign |
Het |
Sptlc2 |
A |
T |
12: 87,393,535 (GRCm39) |
L264Q |
probably damaging |
Het |
Sra1 |
A |
G |
18: 36,811,460 (GRCm39) |
S93P |
probably damaging |
Het |
Sult1c2 |
T |
C |
17: 54,271,680 (GRCm39) |
E169G |
probably benign |
Het |
Sv2a |
A |
G |
3: 96,092,888 (GRCm39) |
D196G |
probably damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,813,754 (GRCm39) |
I362M |
probably damaging |
Het |
Tenm3 |
T |
C |
8: 48,681,797 (GRCm39) |
D2611G |
probably damaging |
Het |
Tmem43 |
T |
C |
6: 91,457,690 (GRCm39) |
F191L |
probably benign |
Het |
Trbv13-2 |
T |
A |
6: 41,098,628 (GRCm39) |
Y68N |
probably benign |
Het |
Ttn |
T |
G |
2: 76,604,998 (GRCm39) |
D18312A |
possibly damaging |
Het |
Ublcp1 |
A |
G |
11: 44,356,433 (GRCm39) |
V95A |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 102,900,047 (GRCm39) |
V295A |
probably damaging |
Het |
Vmn1r29 |
T |
A |
6: 58,285,152 (GRCm39) |
L291M |
possibly damaging |
Het |
Vsig10l |
C |
T |
7: 43,113,575 (GRCm39) |
R176* |
probably null |
Het |
Zbtb46 |
A |
G |
2: 181,065,210 (GRCm39) |
|
probably null |
Het |
Zfp644 |
A |
G |
5: 106,785,848 (GRCm39) |
V233A |
probably benign |
Het |
|
Other mutations in Map6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0035:Map6
|
UTSW |
7 |
98,966,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R0035:Map6
|
UTSW |
7 |
98,966,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R0118:Map6
|
UTSW |
7 |
98,966,824 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0125:Map6
|
UTSW |
7 |
98,985,187 (GRCm39) |
splice site |
probably null |
|
R0244:Map6
|
UTSW |
7 |
98,986,043 (GRCm39) |
missense |
probably benign |
0.00 |
R0973:Map6
|
UTSW |
7 |
98,985,950 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0973:Map6
|
UTSW |
7 |
98,985,950 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0974:Map6
|
UTSW |
7 |
98,985,950 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1455:Map6
|
UTSW |
7 |
98,917,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Map6
|
UTSW |
7 |
98,917,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R1696:Map6
|
UTSW |
7 |
98,966,664 (GRCm39) |
splice site |
probably null |
|
R1866:Map6
|
UTSW |
7 |
98,965,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R2061:Map6
|
UTSW |
7 |
98,966,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R3236:Map6
|
UTSW |
7 |
98,986,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R3625:Map6
|
UTSW |
7 |
98,918,402 (GRCm39) |
missense |
possibly damaging |
0.60 |
R4044:Map6
|
UTSW |
7 |
98,917,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R4570:Map6
|
UTSW |
7 |
98,985,763 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5056:Map6
|
UTSW |
7 |
98,985,859 (GRCm39) |
missense |
probably benign |
0.05 |
R5065:Map6
|
UTSW |
7 |
98,985,917 (GRCm39) |
missense |
probably benign |
0.02 |
R6101:Map6
|
UTSW |
7 |
98,917,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R6105:Map6
|
UTSW |
7 |
98,917,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R6302:Map6
|
UTSW |
7 |
98,985,314 (GRCm39) |
missense |
probably damaging |
0.99 |
R6450:Map6
|
UTSW |
7 |
98,917,245 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Map6
|
UTSW |
7 |
98,917,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R7205:Map6
|
UTSW |
7 |
98,918,257 (GRCm39) |
missense |
probably benign |
0.00 |
R7223:Map6
|
UTSW |
7 |
98,917,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R7293:Map6
|
UTSW |
7 |
98,985,740 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7481:Map6
|
UTSW |
7 |
98,918,345 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7489:Map6
|
UTSW |
7 |
98,917,268 (GRCm39) |
missense |
probably damaging |
1.00 |
R7691:Map6
|
UTSW |
7 |
98,985,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7693:Map6
|
UTSW |
7 |
98,985,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7695:Map6
|
UTSW |
7 |
98,985,499 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8341:Map6
|
UTSW |
7 |
98,917,647 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8865:Map6
|
UTSW |
7 |
98,918,192 (GRCm39) |
missense |
probably benign |
0.37 |
R8953:Map6
|
UTSW |
7 |
98,965,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R9108:Map6
|
UTSW |
7 |
98,986,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R9173:Map6
|
UTSW |
7 |
98,917,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R9613:Map6
|
UTSW |
7 |
98,918,384 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9654:Map6
|
UTSW |
7 |
98,986,166 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Map6
|
UTSW |
7 |
98,966,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTGCCAAAAGATCAAGTTCCTG -3'
(R):5'- CTTCAAAGAGGCCATGATGGAG -3'
Sequencing Primer
(F):5'- CTGTAGTCCCAGGGTCCTTAAAG -3'
(R):5'- GGAGACATGCTGGTCCTTCCTAC -3'
|
Posted On |
2016-11-09 |